"CHARGE Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
| Descriptor ID |
D058747
|
| MeSH Number(s) |
C16.131.077.239 C16.320.165
|
| Concept/Terms |
CHARGE Syndrome- CHARGE Syndrome
- CHARGE Syndromes
- Syndrome, CHARGE
- CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
- CHARGE Association
- Association, CHARGE
- Associations, CHARGE
- CHARGE Associations
- Hall-Hittner Syndrome
- Hall Hittner Syndrome
- Syndrome, Hall-Hittner
Familial CHARGE Syndrome- Familial CHARGE Syndrome
- CHARGE Syndrome, Familial
- CHARGE Syndromes, Familial
- Familial CHARGE Syndromes
|
Below are MeSH descriptors whose meaning is more general than "CHARGE Syndrome".
Below are MeSH descriptors whose meaning is more specific than "CHARGE Syndrome".
This graph shows the total number of publications written about "CHARGE Syndrome" by people in this website by year, and whether "CHARGE Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 |
| 2014 | 2 | 0 | 2 |
| 2015 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "CHARGE Syndrome" by people in Profiles.
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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2023 02; 43(2):247-270.
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The CHARGE syndrome ortholog CHD-7 regulates TGF-? pathways in Caenorhabditis elegans. Proc Natl Acad Sci U S A. 2022 04 12; 119(15):e2109508119.
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CHD7 regulates cardiovascular development through ATP-dependent and -independent activities. Proc Natl Acad Sci U S A. 2020 11 17; 117(46):28847-28858.
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Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. Proc Natl Acad Sci U S A. 2018 01 23; 115(4):E620-E629.
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Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome. Gene. 2016 Feb 01; 576(2 Pt 2):776-81.
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Inappropriate p53 activation during development induces features of CHARGE syndrome. Nature. 2014 Oct 09; 514(7521):228-32.
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The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development. Dev Dyn. 2014 Sep; 243(9):1055-66.
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Secondary glioblastoma multiform in a patient with CHARGE syndrome and prior radiation therapy for medulloblastoma. Pediatr Hematol Oncol. 2014 May; 31(4):366-8.
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CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome. Hum Mol Genet. 2014 Jan 15; 23(2):434-48.
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Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3182-6.